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ONTOLOGY REPORT - ANNOTATIONS


Term:Frasier syndrome
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Accession:DOID:0050438 term browser browse the term
Definition:A syndrome characterized by CHRONIC KIDNEY FAILURE and GONADAL DYSGENESIS in phenotypic females with karyotype of 46,XY or female individual with a normal 46,XX karyotype. It is caused by donor splice-site mutations of Wilms tumor suppressor gene (GENES, WILMS TUMOR) on chromosome 11.
Synonyms:primary_id: MESH:D052159
 alt_id: OMIM:136680;   RDO:0007590
 xref: GARD:2375
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Frasier syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wt1 Wilms tumor 1 JBrowse link 3 95,133,221 95,180,574 RGD:7240710
RGD:8554872

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Path 1
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  disease 14759
    syndrome 4210
      Frasier syndrome 1
Path 2
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  disease 14759
    disease of anatomical entity 13978
      Urogenital Diseases 3755
        urinary system disease 1990
          kidney disease 1786
            kidney failure 438
              chronic kidney disease 211
                end stage renal failure 176
                  Frasier syndrome 1
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